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rs80338740

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTC;TTC) 0 common in clinvar
Make rs80338740(-;-)
Make rs80338740(-;TTC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153693985
GeneSLC6A8
is asnp
is mentioned by
dbSNPrs80338740
ebirs80338740
HLIrs80338740
Exacrs80338740
Varsomers80338740
Maprs80338740
PheGenIrs80338740
hapmaprs80338740
1000 genomesrs80338740
hgdprs80338740
ensemblrs80338740
gopubmedrs80338740
geneviewrs80338740
scholarrs80338740
googlers80338740
pharmgkbrs80338740
gwascentralrs80338740
openSNPrs80338740
23andMers80338740
23andMe allrs80338740
SNP Nexus

SNPshotrs80338740
SNPdbers80338740
MSV3drs80338740
GWAS Ctlgrs80338740
Max Magnitude0
OMIM300036
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338740(;)
Alt rs80338740(;)
Reference rs80338740(TTC;TTC)
Significance Pathogenic
Disease Creatine deficiency
Variation info
Gene SLC6A8
CLNDBN Creatine deficiency, X-linked
Reversed 0
HGVS NC_000023.10:g.152959440_152959442delTTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012464.17,


[PMID 12210795] X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.